Canonical Allele Identifier: CA2587950391

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533839-ACCCCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533846_7533851del , CM000681.2:g.7533846_7533851del	GRCh38
NC_000019.9:g.7598732_7598737del , CM000681.1:g.7598732_7598737del	GRCh37
NC_000019.8:g.7504732_7504737del	NCBI36
NG_013374.1:g.4695_4700del
NG_015806.1:g.16237_16242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*51_*56del MANE Select	ENSP00000264079.5:n.*51_*56del
ENST00000264079.10:c.*51_*56del	ENSP00000264079.5:n.*51_*56del
ENST00000394321.9:n.2109_2114del
ENST00000599334.1:c.522_527del
ENST00000601870.1:c.147_152del
ENST00000602227.1:n.348_353del
NM_020533.2:c.*51_*56del	NP_065394.1:n.*51_*56del
NM_020533.3:c.*51_*56del MANE Select	NP_065394.1:n.*51_*56del